Full data view for gene FZD4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_012193.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

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Owner     
-/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - benign g.86663296G>A g.86952254G>A - - FZD4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - pathogenic g.86663296G>A g.86952254G>A P168S - FZD4_000042 - PubMed: MacDonald - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood - EVR1 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? - - - 1 Dimitra Ilektra Lerou
-?/. - c.502C>T r.(?) p.(Pro168Ser) Parent #1 - likely benign g.86663296G>A g.86952254G>A - - FZD4_000042 117 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61735303 Germline - 117/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 117 Mohammed Faruq
-?/. - c.502C>T r.(?) p.(Pro168Ser) Both (homozygous) - likely benign g.86663296G>A g.86952254G>A - - FZD4_000042 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61735303 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 5 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Paternal (confirmed) - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 6 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 6-2 PubMed: Drenser 2009 father of 6 (mentioned in the paper, no numbering) M - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Paternal (confirmed) - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 7 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - EVR1 7-2 PubMed: Drenser 2009 father of 7 (mentioned in the paper, no numbering) M - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 8 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - EVR1 9 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Maternal (confirmed) - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 10 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Maternal (confirmed) - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 10-2 PubMed: Drenser 2009 twin of 10 (mentioned in the paper, no numbering) - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Maternal (confirmed) - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 10-3 PubMed: Drenser 2009 mother of 10 and 10-2 (mentioned in the paper, no numbering) F - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 11 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Maternal (confirmed) - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline yes - - - - DNA SEQ blood - ROP 11-2 PubMed: Drenser 2009 mother of 11 (mentioned in the paper, no numbering) F - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - ROP 12 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
+?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - likely pathogenic g.86663296G>A g.86952254G>A FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S - FZD4_000042 heterozygous PubMed: Drenser 2009 - - Germline/De novo (untested) ? - - - - DNA SEQ blood - ROP 13 PubMed: Drenser 2009 - - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.502C>T, P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 41 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.502C>T, P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 42 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.502C>T, P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 43 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 19 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 20 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 21 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 22 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 23 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 24 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 25 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 26 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 27 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 28 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 29 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 30 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 31 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 32 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 33 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 34 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ROP 35 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 36 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 37 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - EVR1 38 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
?/. 2 c.502C>T r.(?) p.(Pro168Ser) Unknown - association g.86663296G>A g.86952254G>A FZD4 c.97C>T;c.502C>T, P33S;P168S - FZD4_000042 heterozygous PubMed: Dailey 2015 - - Germline/De novo (untested) ? mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants - - - DNA SEQ blood - ND 39 PubMed: Dailey 2015 20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants - - - - - - - - 1 LOVD
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